Research Topics
| Maria KirchhoffSummaryAffiliation: Copenhagen University Hospital Country: Denmark Publications
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Detail Information
Publications
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial featuresMaria Kirchhoff
Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Eur J Med Genet 50:256-63. 2007..Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication...- MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regionsMaria Kirchhoff
Chromosome Laboratory, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Eur J Med Genet 50:33-42. 2007..MRS-MLPA combined with Subtelomeric MLPA represents an attractive first test in a clinical algorithm for mental retardation... - Flow cytometric DNA index, G-band karyotyping, and comparative genomic hybridization in detection of high hyperdiploidy in childhood acute lymphoblastic leukemiaUlrikka Nygaard
Department of Pediatrics, The University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
J Pediatr Hematol Oncol 28:134-40. 2006..In addition, FCM detects patients with high hyperdiploid subclones, not detected by either GBK or HR-CGH, and the challenge remains to determine the prognosis of patients with such high hyperdiploid subclones... - Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic featuresAnne Marie Bisgaard
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Am J Med Genet A 140:2180-7. 2006.... - Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?Anne Marie Bisgaard
Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Eur J Med Genet 50:243-55. 2007..These cases illustrate the need for careful assessment of the extended family in order to interpret the phenotypic consequences of abnormalities identified using array-CGH... - Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomataAnne Marie Bisgaard
Department of Clinical Genetics, Rigshospitalet, Copenhagen Ø, Denmark
Clin Dysmorphol 16:109-12. 2007..We hypothesize that haploinsufficiency of WNT2B (wingless-type MMTV integration site family, member 2B) and NTNG1 (Netrin G1) contributed to the patient's phenotype... - Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletionMorten Dunø
Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
Hum Genet 115:459-67. 2004..The described copy number scanning approach is largely independent of the genomic locus and may be a valuable tool for characterising a large spectrum of deletions... - Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndromeAnne-Marie Bisgaard
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Am J Med Genet A 140:644-8. 2006 - Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)Tommy Gerdes
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Electrophoresis 26:4327-32. 2005..Sample quality was automatically assessed. Control probes were not required. Having used the software and methods for two years, we conclude that a reliable, objective, and fast workflow is obtained... - Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGHMaria Kirchhoff
Department of Clinical Genetics, 4052 Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Am J Med Genet A 127:111-7. 2004..It is likely that the use of the technique in this application will reinforce the effort of defining new syndromes... - Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremitiesHanne Dahlgaard Hove
Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
Clin Dysmorphol 17:121-2. 2008 
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patientsAnn Britt Kiholm Lund
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Eur J Med Genet 51:520-6. 2008..To our knowledge this is the first report of a patient with a 15q24 microduplication...- Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff
Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
Am J Med Genet A 149:894-905. 2009..In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years... - Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and YTommy Gerdes
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Prenat Diagn 28:1119-25. 2008..Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported... - Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)Tommy Gerdes
Department of Clinical Genetics, Rigshospitalet, DK-2100 Copenhagen, Denmark
Eur J Hum Genet 13:171-5. 2005..In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics... - Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletionsKarin Wadt
Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark
Prenat Diagn 32:1212-7. 2012..We review published cases of <5 Mb terminal 6q deletions. © 2012 John Wiley & Sons, Ltd... - High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemiaTim D Kristensen
Department of Pediatrics, The University Hospital, Rigshospitalet, Copenhagen, Denmark
Eur J Haematol 70:363-72. 2003..CONCLUSION: HRCGH is superior to conventional CGH as an adjunct to G-band karyotyping as it detects recurrent aberrations at a significantly higher rate than both these techniques... - Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequencesJohn C K Barber
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
Am J Med Genet A 143:615-8. 2007 - Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann
Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 28:674-82. 2007..Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR... - Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplificationMaria Kirchhoff
Am J Med Genet A 139:231-3. 2005 - Polydactyly in a boy with Smith-Magenis syndromeLisbeth Mariannejensen
Pediatric Department, Herning Sygehus, Herning, Denmark
Clin Dysmorphol 14:189-90. 2005..We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know... - [Chromosome aberrations in mentally retarded and dysmorphic patients with normal karyotypes]Maria Kirchhoff
H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling,
Ugeskr Laeger 166:4482-5. 2004